Canonical Allele Identifier: CA2697553777
Gene: STX11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2744743
ClinVar RCV Id: RCV003504620

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.144186754_144186760del , CM000668.2:g.144186754_144186760del GRCh38
NC_000006.11:g.144507891_144507897del , CM000668.1:g.144507891_144507897del GRCh37
NC_000006.10:g.144549584_144549590del NCBI36
NG_007613.1:g.41238_41244del , LRG_113:g.41238_41244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698355.1:c.127_133del ENSP00000513678.1:p.Ser43ThrfsTer18
ENST00000698356.1:c.127_133del ENSP00000513679.1:p.Ser43ThrfsTer18
ENST00000698357.1:c.127_133del ENSP00000513680.1:p.Ser43ThrfsTer18
ENST00000367568.5:c.127_133del MANE Select ENSP00000356540.4:p.Ser43ThrfsTer18
ENST00000367568.4:c.127_133del ENSP00000356540.4:p.Ser43ThrfsTer18
NM_003764.3:c.127_133del , LRG_113t1:c.127_133del NP_003755.2:p.Ser43ThrfsTer18
XM_011536213.1:c.205_211del XP_011534515.1:p.Ser69ThrfsTer18
XM_011536214.1:c.127_133del XP_011534516.1:p.Ser43ThrfsTer18
XM_011536215.1:c.127_133del XP_011534517.1:p.Ser43ThrfsTer18
XM_011536216.1:c.127_133del XP_011534518.1:p.Ser43ThrfsTer18
XM_011536217.1:c.127_133del XP_011534519.1:p.Ser43ThrfsTer18
XM_011536218.1:c.127_133del XP_011534520.1:p.Ser43ThrfsTer18
XM_011536213.2:c.205_211del XP_011534515.1:p.Ser69ThrfsTer18
XM_011536214.2:c.127_133del XP_011534516.1:p.Ser43ThrfsTer18
XM_011536217.2:c.127_133del XP_011534519.1:p.Ser43ThrfsTer18
XM_011536218.2:c.127_133del XP_011534520.1:p.Ser43ThrfsTer18
XM_017011400.1:c.127_133del XP_016866889.1:p.Ser43ThrfsTer18
NM_003764.4:c.127_133del MANE Select NP_003755.2:p.Ser43ThrfsTer18